rs11720452

Variant names:

• chr3-21207150-C-T
• rs11720452
• ENST00000634947.1:n.370+17538G>A

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The ENST00000634947.1(ENSG00000282987):​n.370+17538G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.246 in 152,100 control chromosomes in the GnomAD database, including 5,910 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.25 (5910 hom., cov: 33)
• Consequence: ENSG00000282987 ENST00000634947.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.781
• Publications: 10 publications found

Genes affected

ENSG00000282987 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.21).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.361 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105376988	XR_940646.3	n.545-3848C>T		intron_variant	Intron 2 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000282987	ENST00000634947.1	n.370+17538G>A		intron_variant	Intron 2 of 2	5

Frequencies

GnomAD3 genomes AF: 0.246 AC: 37421 AN: 151984 Hom.: 5911 Cov.: 33

Gnomad AFR AF: 0.0687

Gnomad AMI AF: 0.420

Gnomad AMR AF: 0.209

Gnomad ASJ AF: 0.338

Gnomad EAS AF: 0.126

Gnomad SAS AF: 0.141

Gnomad FIN AF: 0.293

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.365

Gnomad OTH AF: 0.253

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.246 AC: 37415 AN: 152100 Hom.: 5910 Cov.: 33 AF XY: 0.239 AC XY: 17783 AN XY: 74348

African (AFR) AF: 0.0685 AC: 2846 AN: 41534

American (AMR) AF: 0.209 AC: 3188 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.338 AC: 1172 AN: 3470

East Asian (EAS) AF: 0.126 AC: 653 AN: 5172

South Asian (SAS) AF: 0.141 AC: 680 AN: 4820

European-Finnish (FIN) AF: 0.293 AC: 3091 AN: 10534

Middle Eastern (MID) AF: 0.247 AC: 72 AN: 292

European-Non Finnish (NFE) AF: 0.365 AC: 24791 AN: 67966

Other (OTH) AF: 0.255 AC: 539 AN: 2114

Alfa AF: 0.314 Hom.: 23429

Bravo AF: 0.233

Asia WGS AF: 0.120 AC: 416 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.21
CADD	Benign	18
DANN	Benign	0.64
PhyloP100		0.78

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs11720452; hg19: chr3-21248642;